title: High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect.
authors.affiliation: DNA Diagnostics Laboratory, Research Center of Medical Genetics, Moskvorechie, Moscow, Russia.
authors.forename: A V
authors.initials: AV
authors.lastname: Polyakov
authors.forename: I G
authors.initials: IG
authors.lastname: Dzenis
authors.forename: V A
authors.initials: VA
authors.lastname: Baharev
authors.forename: O V
authors.initials: OV
authors.lastname: Evgrafov
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005192:Family Health; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D012426:Russia; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D004247:DNA; D013255:Steroid 21-Hydroxylase; C024669:endodeoxyribonuclease AluI; D015252:Deoxyribonucleases, Type II Site-Specific